Diagnosis for Turner Syndrome

  • A diagnosis for turner syndrome is usually suspected when certain physical features such as a broad chest, swollen neck and swollen extremities are observed. This diagnosis may be made at the time of birth.
  • When making the diagnosis, doctor look for two prominent clinical features; short stature and poor development of the ovaries. Some girls may be diagnosed during early childhood when growth occurs slowly and other symptoms are noticed. In a few cases, the diagnosis may also be made much later when puberty fails to take place.
  • It is also possible to diagnose Turner syndrome in pregnancy during an ultrasound test. Following this, prenatal testing is done to obtain a sample of cells from the fetus. A chromosomal analysis will reveal if the unborn baby has Turner syndrome. If the diagnosis is confirmed, the baby will be placed under the care of a specialist soon after birth.
  • Another test used in the diagnosis of Turner syndrome is a blood test known as karotype. It is used to examine the chromosomal composition of a female.